Hasil Pencarian - Saddek Mohand Saïd
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Author Correction: The development of white matter structural changes during the process of deterioration of the visual field oleh Shir Hofstetter, Norman Sabbah, Saddek Mohand-Saïd, José-Alain Sahel, Christophe Habas, Avinoam B. Safran, Amir Amedi
Diterbitkan 2021-05-01
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Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa oleh Marco Nassisi, Carlo Lavia, Saddek Mohand-Said, Vasily Smirnov, Aline Antonio, Christel Condroyer, Serge Sancho, Juliette Varin, Alain Gaudric, Christina Zeitz, José-Alain Sahel, Isabelle Audo
Diterbitkan 2021-02-01
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A Splice Variant in <i>SLC16A8</i> Gene Leads to Lactate Transport Deficit in Human iPS Cell-Derived Retinal Pigment Epithelial Cells oleh Laurence Klipfel, Marie Cordonnier, Léa Thiébault, Emmanuelle Clérin, Frédéric Blond, Géraldine Millet-Puel, Saddek Mohand-Saïd, Olivier Goureau, José-Alain Sahel, Emeline F. Nandrot, Thierry Léveillard
Diterbitkan 2021-01-01
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Prevalence of <i>ABCA4</i> Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease oleh Marco Nassisi, Saddek Mohand-Saïd, Camille Andrieu, Aline Antonio, Christel Condroyer, Cécile Méjécase, Juliette Varin, Juliette Wohlschlegel, Claire-Marie Dhaenens, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Diterbitkan 2019-10-01
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Characteristics of Retinitis Pigmentosa Associated with <i>ADGRV1</i> and Comparison with <i>USH2A</i> in Patients from a Multicentric Usher Syndrome Study Treatrush oleh Ana Fakin, Crystel Bonnet, Anne Kurtenbach, Saddek Mohand-Said, Ditta Zobor, Katarina Stingl, Francesco Testa, Francesca Simonelli, José-Alain Sahel, Isabelle Audo, Eberhart Zrenner, Marko Hawlina, Christine Petit
Diterbitkan 2021-09-01
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Retrospective Natural History Study of <i>RPGR</i>-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease oleh Marco Nassisi, Giuseppe De Bartolo, Saddek Mohand-Said, Christel Condroyer, Aline Antonio, Marie-Elise Lancelot, Kinga Bujakowska, Vasily Smirnov, Thomas Pugliese, John Neidhardt, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Diterbitkan 2022-06-01
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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies oleh Elise Boulanger-Scemama, Saddek Mohand-Saïd, Said El Shamieh, Vanessa Démontant, Christel Condroyer, Aline Antonio, Christelle Michiels, Fiona Boyard, Jean-Paul Saraiva, Mélanie Letexier, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Diterbitkan 2019-09-01
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Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort oleh Marco Nassisi, Saddek Mohand-Saïd, Claire-Marie Dhaenens, Fiona Boyard, Vanessa Démontant, Camille Andrieu, Aline Antonio, Christel Condroyer, Marine Foussard, Cécile Méjécase, Chiara Maria Eandi, José-Alain Sahel, Christina Zeitz, Isabelle Audo
Diterbitkan 2018-07-01
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Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy. oleh Cécile Méjécase, Caroline Laurent-Coriat, Claudine Mayer, Olivier Poch, Saddek Mohand-Saïd, Camille Prévot, Aline Antonio, Fiona Boyard, Christel Condroyer, Christelle Michiels, Steven Blanchard, Mélanie Letexier, Jean-Paul Saraiva, José-Alain Sahel, Isabelle Audo, Christina Zeitz
Diterbitkan 2016-01-01
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Novel <i>TTLL5</i> Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy oleh Vasily Smirnov, Olivier Grunewald, Jean Muller, Christina Zeitz, Carolin D. Obermaier, Aurore Devos, Valérie Pelletier, Béatrice Bocquet, Camille Andrieu, Jean-Louis Bacquet, Elodie Lebredonchel, Saddek Mohand-Saïd, Sabine Defoort-Dhellemmes, José-Alain Sahel, Hélène Dollfus, Xavier Zanlonghi, Isabelle Audo, Isabelle Meunier, Elise Boulanger-Scemama, Claire-Marie Dhaenens
Diterbitkan 2021-06-01
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Mutated <i>CCDC51</i> Coding for a Mitochondrial Protein, MITOK Is a Candidate Gene Defect for Autosomal Recessive Rod-Cone Dystrophy oleh Christina Zeitz, Cécile Méjécase, Christelle Michiels, Christel Condroyer, Juliette Wohlschlegel, Marine Foussard, Aline Antonio, Vanessa Démontant, Lisa Emmenegger, Audrey Schalk, Marion Neuillé, Elise Orhan, Sébastien Augustin, Crystel Bonnet, Amrit Estivalet, Frédéric Blond, Steven Blanchard, Camille Andrieu, Sandra Chantot-Bastaraud, Thierry Léveillard, Saddek Mohand-Saïd, José-Alain Sahel, Isabelle Audo
Diterbitkan 2021-07-01
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Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy oleh Pierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, Xavier Zanlonghi, Hélène Dollfus, Alberta A. H. J. Thiadens, Christina Zeitz, Grazia M. S. Mancini, Yaumara Perdomo, Saddek Mohand-Saïd, Eléonore Lizé, Vincent Lhussiez, Emeline F. Nandrot, Niyazi Acar, Catherine Creuzot-Garcher, José-Alain Sahel, Muhammad Ansar, Christel Thauvin-Robinet, Laurence Duplomb, Romain Da Costa
Diterbitkan 2021-08-01
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Dietary, environmental, and genetic risk factors of Extensive Macular Atrophy with Pseudodrusen, a severe bilateral macular atrophy of middle-aged patients oleh Aymeric Douillard, Marie-Christine Picot, Cécile Delcourt, Sabine Defoort-Dhellemmes, Nour Al-Dain Marzouka, Annie Lacroux, Xavier Zanlonghi, Isabelle Drumare, Elsa Jozefowicz, Béatrice Bocquet, Corinne Baudoin, Sarah Perez-Roustit, Sophie Arsène, Valérie Gissot, François Devin, Carl Arndt, Benjamin Wolff, Martine Mauget-Faÿsse, Maddalena Quaranta, Thibault Mura, Dominique Deplanque, Hassiba Oubraham, Salomon Yves Cohen, Pierre Gastaud, Olivia Zambrowski, Catherine Creuzot-Garcher, Saddek Mohand Saïd, José-Alain Sahel, Eric Souied, Solange Milazzo, Rocio Blanco Garavito, Vasiliki Kalatzis, Bernard Puech, Christian Hamel, Isabelle Audo, Isabelle Meunier
Diterbitkan 2018-05-01
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